Searchable abstracts of presentations at key conferences in endocrinology

ea0024oc4.1 | Oral Communications 4 (Brief Communications) | BSPED2010

Cyclical variation in the incidence of type 1 diabetes in children from northeast England

McNally R , Court S , James P , Pollock R , Blakey K , Begon M , Cheetham T

Background: Environmental factors play a role in the aetiology of type 1 diabetes. A particular role for infectious exposures has been postulated. Temporal variation in incidence would be consistent with this hypothesis. We specifically aimed to test predictions of increasing incidence occurring among cases of type 1 diabetes in children (aged 0–14 years) that might arise as a result of an environmental mechanism.Subjects and methods: The study anal...

ea0009oc26 | Oral Communication 4: Steroids | BES2005

Identification of a defective gene in Familial Glucocorticoid Deficiency type 2 as a ACTH receptor accessory factor responsible for cell surface trafficking

Metherell L , Chapple J , Cooray S , Naville D , Begeot M , Huebner A , Cheetham M , Clark A

FGD is an autosomal recessive disorder resulting from resistance to the action of ACTH on the adrenal cortex to stimulate glucocorticoid production. The disease is caused by mutations in ACTHR or MC2R in 25% of cases, termed FGD type 1, and has previously been linked to a locus on chromosome 8q12.2-21.2 in a single family with FGD type 2. We have recently described a novel gene (FGD2) that when defective is a second cause of FGD. Sequencing of this gene in 100 FGD2 patients ha...